A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9829773



Internal ID18636937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:119886787..119894126hg38UCSC Ensembl
InnerchrX:119020750..119028089hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg387340
hg197340
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3577189
Supporting Variants
Samples400312CR
Known Genes
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
CommentsNumber of probes=12
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9829773
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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